What is ALS?

Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurological (nervous system) disease. Sometimes called Lou Gehrig’s disease, ALS belongs to a group of disorders known as motor neuron diseases. ALS attacks nerve cells, called motor neurons, that control voluntary muscles, leading to progressive weakness and disability. Once these cells die, the ability of the brain to initiate and control muscle movement is completely lost. [“Amyotrophic” comes from the Greek language and means “no muscle nourishment.”] People with ALS eventually lose their strength, the ability to move their arms, legs, and body, and the ability to breathe on their own. Their senses, including hearing, sight, smell, taste, and touch, are not affected. In most cases, their minds remain sharp and alert.

While ALS is a rare disease, it is one of the most common neuromuscular conditions.

Approximately 6000 people per year are diagnosed with ALS in the U.S. (that’s 15 new cases a day)

It is estimated that more than 20,000 Americans may be living with ALS at any given time.

Most people are between the ages of 40 and 70 at time of diagnosis, with an average age of 55. However, cases of the disease do occur in persons in their twenties and thirties.

In 5-10% of cases ALS is inherited, but in most cases there is no known cause.

The average life expectancy for people with ALS is 2 to 5 years. However, ALS is a variable disease that progresses at different rates for different people.

Once ALS starts, it almost always progresses. How fast and in what order this occurs is very different from person to person. While the average survival time is 3 years, about twenty percent of people with ALS live five years, 10 percent will survive ten years and five percent will live 20 years or more. This variable rate of progression makes predicting prognosis difficult.

Progression is not always a straight line in an individual either. It is not uncommon to have periods lasting weeks to months where there is very little or no loss of function. There are even very rare examples in which there is significant improvement and recovery of lost function. These ALS “arrests” and “reversals” are unfortunately usually transient. Less than 1% of patients with ALS will have significant improvement in function lasting 12 months or more.

There can be significant costs for medical care, equipment and home health caregiving later in the disease. Many costs are not covered by insurance or government programs. Please advocate for ALS support whenever you can — for example, there are bipartisan bills pending in Congress right now that would eliminate the five-month waiting period for ALS patients to obtain Medicare benefits. Click here to see if your representatives have signed on — if not, give them a call! House Bill 1171; Senate Bill 379

Signs and Symptoms

Early Signs

Most people with ALS first feel muscle cramps, spasms or twitching in one of their arms or legs. Other signs include weakness in the hands and feet or loss of balance. This form of the disease is called limb-onset ALS.

About 25% of people with ALS first have trouble talking clearly (slurring words), and/or swallowing. This form of the disease is called bulbar-onset ALS. [Rick has bulbar-onset ALS.]

Either form typically progresses to affect the entire body.

Middle stages of ALS

As the disease spreads, many muscles weaken and start to stiffen. Range of motion exercises will likely be recommended to help keep muscles loose and prevent the formation of contractures and muscle pain.

People with ALS might tire more easily. Breathing may be affected. A BiPAP machine or a phrenic pacermight be suggested, particularly to help improve sleeping. Medications might be also recommended to manage issues such as uncontrollable laughing or crying (pseudobulbar affect) or reduce muscle spasms.

People with ALS can develop malnutrition and dehydration from damage to the muscles that control swallowing. They are also at higher risk of getting food, liquids or saliva into the lungs, which can cause pneumonia. A feeding tube can reduce these risks and ensure proper hydration and nutrition.

Most people with ALS will develop trouble speaking over time. This usually starts as occasional, mild slurring of words, but progresses to become more severe. People with bulbar-onset often work with a speech therapist to keep talking longer. Speech eventually becomes more difficult for others to understand, and people with ALS often need other technologies to communicate.

People with limb-onset ALS may rely on a cane, leg brace, walker, or wheelchair due to difficulties walking and maintaining balance.

Most people with ALS do not experience a loss of mental capacity. However, some patients experience problems with memory and making decisions, and some are eventually diagnosed with a form of dementia called frontotemporal dementia.

Late stages of ALS

As the disease progresses, muscles become paralyzed. Most people with ALS require a wheelchair to get around and may communicate through assistive devices using an eye-tracking device or a letter board.

Some people with advanced ALS choose to have invasive ventilation called a tracheostomy — a surgically created hole at the front of the neck leading to the windpipe (trachea) — for full-time use of a respirator that inflates and deflates their lungs.

People with late-stage ALS are often cared for in hospices or at home. Most people lose the battle with ALS due to respiratory failure.

Treatment

Recent years have brought a wealth of new scientific understanding regarding the physiology of this disease. Although there is not yet a cure or treatment that halts or reverses ALS, scientists have made significant progress in learning more about it.

There are medications that are used to help relieve symptoms, such as muscle cramps and fatigue, although they are not indicated to treat the disease. There are also two prescription medications that are FDA-approved for the treatment of ALS:

Riluzole, approved in 1995, has been shown to slow the progression of ALS by several months

Radicava (edaravone) was just approved by the FDA in May 2017 and will be available in the U.S. in late summer/early fall 2017. It is administered by multiple infusions each month, and has been shown in clinical trials to slow progression in patients in early stages of ALS.

In addition, people with ALS may experience a better quality of life in living with the disease by working with an ALS multidisciplinary clinic, such as the one at Massachusetts General Hospital. These clinics help manage the symptoms of the disease and assist people living with ALS in maintaining as much independence as possible for as long as possible. These clinics typically are staffed with or have access to neurologists, nurses, researchers, physical and occupational therapists, respiratory therapists, speech pathologists, nutritionists, augmentative communication specialists, and genetic counselors. Studies have shown that participation in a multidisciplinary ALS clinic may prolong survival.